Canonical Allele Identifier: CA374599905

Gene: COL27A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114288968G>A , CM000671.2:g.114288968G>A	GRCh38
NC_000009.11:g.117051248G>A , CM000671.1:g.117051248G>A	GRCh37
NC_000009.10:g.116091069G>A	NCBI36
NG_034260.1:g.138424G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_032888.4:c.4152+1G>A MANE Select	NP_116277.2:n.4152+1G>A
ENST00000356083.8:c.4152+1G>A MANE Select	ENSP00000348385.3:n.4152+1G>A
NM_032888.3:c.4152+1G>A	NP_116277.2:n.4152+1G>A
ENST00000356083.7:c.4152+1G>A	ENSP00000348385.3:n.4152+1G>A
ENST00000494090.6:c.3045+1G>A
XM_006717308.2:c.4098+1G>A	XP_006717371.1:n.4098+1G>A
XM_006717310.2:c.1833+1G>A	XP_006717373.1:n.1833+1G>A
XM_006717310.3:c.1833+1G>A	XP_006717373.1:n.1833+1G>A
XM_011519138.1:c.4146+1G>A	XP_011517440.1:n.4146+1G>A
XM_011519138.2:c.4146+1G>A	XP_011517440.1:n.4146+1G>A
XM_011519139.1:c.4128+1G>A	XP_011517441.1:n.4128+1G>A
XM_011519140.1:c.4098+1G>A	XP_011517442.1:n.4098+1G>A
XM_011519141.1:c.4152+1G>A	XP_011517443.1:n.4152+1G>A
XM_011519145.1:c.1719+1G>A	XP_011517447.1:n.1719+1G>A
XM_011519145.3:c.1719+1G>A	XP_011517447.1:n.1719+1G>A
XR_001746405.1:n.4630+1G>A
XR_929860.1:n.4628+1G>A
XR_929860.3:n.4629+1G>A
XR_929861.1:n.4629+1G>A
XR_929861.2:n.4630+1G>A